羊水细胞染色体核型分析和微列阵比较基因组杂交技术验证无创产前检测的临床意义

Utilizing Amniotic Fluid Cell Karyotype Analysis and Array-CGH to Confirm NIPT Results and Discuss the Clinical Significance

目的:探讨羊水细胞染色体核型分析技术和微列阵比较基因组杂交技术(array-CGH)验证无创产前检测(NIPT)的临床意义。方法:对NIPT提示信号异常的95例孕妇行羊膜腔穿刺术,抽取羊水进行培养后行染色体核型分析验证其符合率;同时对提示除外21-三体、18-三体、13-三体的常染色体异常(即其他常染色体异常)的患者行array-CGH分析,验证其符合率。结果:NIPT提示21-三体高风险的染色体核型分析符合率86.96%(40/46);18-三体的染色体核型分析符合率76.92%(10/13);13-三体染色体核型分析符合率0(0/2)。性染色体核型分析的符合率50.00%(9/18),其中1例性染色体异常的染色体核型分析为46,XX,del(Xq23-25),行array-CGH验证,提示为X染色体该区带11.9 M的片段缺失。其他常染色体异常的染色体核型分析符合率12.50%(2/16),其array-CGH验证的符合率25.00(4/16)。结论:NIPT的结果需要验证,经典的羊水细胞染色体核型分析技术可以验证胎儿染色体数目和结构异常,array-CGH可以验证微缺失或者微重复,分辨率更高。

Objective：To confirm the results of NIPT utilizing amniotic fluid cell karyotype analysis and ar- ray-CGH and to discuss the clinical significance of NIPT. Methods：Amniotic fluid via amniocentesis were sampled from 95 pregnant women whose NIPT results were abnormal, karyotype analysis and array-CGH analysis were done on the samples,the coincidence rate was verified. Results ：The coincidence rate on trisomy 21 of NIPT was 86. 96% （40/46） ;the coincidence rate on trisomy 18 of N IPT was 76.92% （10/13） ;the coincidence rate on triso-my 13 of NIPT was 0（0/2） ;the coincidence rate on sex chromosomes Karyotype analysis of NIPT was 50. 00% （9/18）, among which 1 case was diagnosed as 46, XX, del （ Xq23-25 ） and it was confirmed by array-CGH; the coincidence rate on autosomes Karyotype analysis of N IPT was 12.50% （2/16）, among which coincidence rate with array-CGH was 25.00 （4/16）. Conclusions ：The results of N IPT must be confirmed through karyotype anal- ysis and array-CGH. Karyotype analysis can identify chromosomal amount and constructure, array-CGH which has higher resolving power can describe micro-deletions and duplications.